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En esta página puede obtener un análisis detallado de una palabra o frase, producido utilizando la mejor tecnología de inteligencia artificial hasta la fecha:
- cómo se usa la palabra
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- etimología
Qué (quién) es 1p36 deletion syndrome - definición
1p36 deletion syndrome
HUMAN DISEASE
1p36 Deletion Syndrome; Chromosome 1, 1p36 deletion syndrome; Monosomy 1p36 syndrome; Monosomy 1p36
1p36 deletion syndrome is a congenital genetic disorder characterized by moderate to severe intellectual disability, delayed growth, hypotonia, seizures, limited speech ability, malformations, hearing and vision impairment, and distinct facial features. The symptoms may vary, depending on the exact location of the chromosomal deletion.
Distal 18q-
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HUMAN DISEASE
De Grouchy syndrome; 18p deletion syndrome; De Grouchy Syndrome; 18q deletion syndrome
Distal 18q- is a genetic condition caused by a deletion of genetic material within one of the two copies of chromosome 18. The deletion involves the distal section of 18q and typically extends to the tip of the long arm of chromosome 18.
9q34.3 deletion syndrome
HUMAN DISEASE
Kleefstra syndrome; Chromosome 9q deletion syndrome; 9q34 deletion syndrome; Kleefstra Syndrome
9q34 deletion syndrome is a rare genetic disorder. Terminal deletions of chromosome 9q34 have been associated with childhood hypotonia, a distinctive facial appearance and developmental disability.
